Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors

Author:

Bonner Erin R.,Harrington Robin,Eze Augustine,Bornhorst Miriam,Kline Cassie N.,Gordish-Dressman Heather,Dawood Adam,Das Biswajit,Chen Li,Pauly Rini,Williams P. MickeyORCID,Karlovich Chris,Peach Amanda,Howell D’andra,Doroshow James,Kilburn Lindsay,Packer Roger J.,Mueller Sabine,Nazarian Javad

Abstract

AbstractMolecular profiling of childhood CNS tumors is critical for diagnosis and clinical management, yet tissue access is restricted due to the sensitive tumor location. We developed a targeted deep sequencing platform to detect tumor driver mutations, copy number variations, and heterogeneity in the liquid biome. Here, we present the sensitivity, specificity, and clinical relevance of our minimally invasive platform for tumor mutation profiling in children diagnosed with CNS cancer.

Funder

U.S. Department of Health & Human Services | NIH | National Cancer Institute

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Oncology

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